Bloom Syndrome

Excerpt

Bloom syndrome, also called Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema, is a rare genodermatosis characterized by genomic instability and predisposition to the development of a variety of cancers. Bloom syndrome is caused by mutations in the BLM gene, which induces the formation of an abnormal DNA helicase protein. High sister chromatid exchanges and quadriradial configurations are diagnostic hallmarks. The most prominent features include growth deficiency of prenatal onset, mild immunodeficiency, excessive photosensitivity with facial lupus-like skin lesions, type 2 diabetes mellitus, and hypogonadism. The increased risk of malignancy in Bloom syndrome leads to a shortened life expectancy and increased morbidity in affected persons.